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Items: 29

1.

Impact of Paternal Age at Conception on Human Health.

Simard M, Laprise C, Girard SL.

Clin Chem. 2019 Jan;65(1):146-152. doi: 10.1373/clinchem.2018.294421. Review.

PMID:
30602478
2.

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2018 Oct 30. doi: 10.1002/ajmg.b.32683. [Epub ahead of print]

PMID:
30378261
3.

Investigating the association and causal relationship between restless legs syndrome and essential tremor.

Liao C, Houle G, He Q, Laporte AD, Girard SL, Dion PA, Rouleau GA.

Parkinsonism Relat Disord. 2018 Oct 19. pii: S1353-8020(18)30458-9. doi: 10.1016/j.parkreldis.2018.10.022. [Epub ahead of print] No abstract available.

PMID:
30366831
4.

Human copy number variants are enriched in regions of low mappability.

Monlong J, Cossette P, Meloche C, Rouleau G, Girard SL, Bourque G.

Nucleic Acids Res. 2018 Aug 21;46(14):7236-7249. doi: 10.1093/nar/gky538.

5.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing.

Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P.

PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285. eCollection 2018 Apr.

6.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

7.

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor.

Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, Rouleau GA.

Neurol Genet. 2017 Oct 19;3(5):e195. doi: 10.1212/NXG.0000000000000195. eCollection 2017 Oct.

8.

Genome-wide association study in essential tremor identifies three new loci.

Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Ladwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA.

Brain. 2016 Dec;139(Pt 12):3163-3169. Epub 2016 Oct 20.

9.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

Girard SL, Bourassa CV, Lemieux Perreault LP, Legault MA, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G, Tremblay RE, Dion PA, Boivin M, Dubé MP, Rouleau GA.

PLoS One. 2016 Oct 10;11(10):e0164212. doi: 10.1371/journal.pone.0164212. eCollection 2016.

10.

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa CV, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, Desautels A, Gagnon JF, Postuma RB, Dion PA, Dauvilliers Y, Dupre N, Alcalay RN, Rouleau GA.

Neurobiol Aging. 2016 Jul;43:180.e7-180.e13. doi: 10.1016/j.neurobiolaging.2016.03.029. Epub 2016 Apr 6.

11.

De novo variants in sporadic cases of childhood onset schizophrenia.

Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA.

Eur J Hum Genet. 2016 Jun;24(6):944-8. doi: 10.1038/ejhg.2015.218. Epub 2015 Oct 28.

12.

Mutation burden of rare variants in schizophrenia candidate genes.

Girard SL, Dion PA, Bourassa CV, Geoffroy S, Lachance-Touchette P, Barhdadi A, Langlois M, Joober R, Krebs MO, Dubé MP, Rouleau GA.

PLoS One. 2015 Jun 3;10(6):e0128988. doi: 10.1371/journal.pone.0128988. eCollection 2015.

13.

Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.

Gan-Or Z, Girard SL, Noreau A, Leblond CS, Gagnon JF, Arnulf I, Mirarchi C, Dauvilliers Y, Desautels A, Mitterling T, Cochen De Cock V, Frauscher B, Monaca C, Hogl B, Dion PA, Postuma RB, Montplaisir JY, Rouleau GA.

J Mol Neurosci. 2015 Jul;56(3):617-22. doi: 10.1007/s12031-015-0569-7. Epub 2015 May 1.

PMID:
25929833
14.

Functional variants of POC5 identified in patients with idiopathic scoliosis.

Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P.

J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172/JCI77262. Epub 2015 Feb 2.

15.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA.

Hum Mol Genet. 2015 Mar 1;24(5):1363-73. doi: 10.1093/hmg/ddu545. Epub 2014 Oct 24.

16.

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL.

Am J Psychiatry. 2015 Jan;172(1):82-93. doi: 10.1176/appi.ajp.2014.13101306. Epub 2014 Oct 31.

17.

Genome-wide association study in FTD: divide to conquer.

Girard SL, Rouleau GA.

Lancet Neurol. 2014 Jul;13(7):643-4. doi: 10.1016/S1474-4422(14)70070-5. No abstract available.

PMID:
24943334
18.

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra-Vanderweele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM.

PLoS Genet. 2013 Oct;9(10):e1003864. doi: 10.1371/journal.pgen.1003864. Epub 2013 Oct 24.

19.

A Wee1 checkpoint inhibits anaphase onset.

Lianga N, Williams EC, Kennedy EK, Doré C, Pilon S, Girard SL, Deneault JS, Rudner AD.

J Cell Biol. 2013 Jun 10;201(6):843-62. doi: 10.1083/jcb.201212038.

20.

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.

Jouan L, Girard SL, Dobrzeniecka S, Ambalavanan A, Krebs MO, Joober R, Gauthier J, Dion PA, Rouleau GA.

Behav Brain Funct. 2013 Feb 20;9:9. doi: 10.1186/1744-9081-9-9.

21.

Exome sequencing identifies FUS mutations as a cause of essential tremor.

Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA.

Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2.

22.

Schizophrenia genetics: putting all the pieces together.

Girard SL, Dion PA, Rouleau GA.

Curr Neurol Neurosci Rep. 2012 Jun;12(3):261-6. doi: 10.1007/s11910-012-0266-7. Review.

PMID:
22456906
23.

Increased exonic de novo mutation rate in individuals with schizophrenia.

Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA.

Nat Genet. 2011 Jul 10;43(9):860-3. doi: 10.1038/ng.886.

PMID:
21743468
24.

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis.

Catoire H, Dion PA, Xiong L, Amari M, Gaudet R, Girard SL, Noreau A, Gaspar C, Turecki G, Montplaisir JY, Parker JA, Rouleau GA.

Ann Neurol. 2011 Jul;70(1):170-5. doi: 10.1002/ana.22435. Epub 2011 Jun 27.

PMID:
21710629
25.

Where are the missing pieces of the schizophrenia genetics puzzle?

Girard SL, Xiong L, Dion PA, Rouleau GA.

Curr Opin Genet Dev. 2011 Jun;21(3):310-6. doi: 10.1016/j.gde.2011.01.001. Epub 2011 Jan 27. Review.

PMID:
21277191
26.

MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

Xiong L, Catoire H, Dion P, Gaspar C, Lafrenière RG, Girard SL, Levchenko A, Rivière JB, Fiori L, St-Onge J, Bachand I, Thibodeau P, Allen R, Earley C, Turecki G, Montplaisir J, Rouleau GA.

Hum Mol Genet. 2009 Mar 15;18(6):1065-74. doi: 10.1093/hmg/ddn443. Epub 2009 Jan 6.

27.

Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

Levchenko A, Montplaisir JY, Asselin G, Provost S, Girard SL, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé MP, Rouleau GA.

Mov Disord. 2009 Jan 15;24(1):40-50. doi: 10.1002/mds.22263.

PMID:
18946881
28.
29.

Analysis of two theta-replicating plasmids of Streptococcus thermophilus.

Girard SL, Moineau S.

Plasmid. 2007 Sep;58(2):174-81. Epub 2007 May 15.

PMID:
17507093

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